X连锁显性遗传性腓骨肌萎缩症（CMTX1）中的连接蛋白32基因突变

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

作者信息

Janssen E A, Kemp S, Hensels G W, Sie O G, de Die-Smulders C E, Hoogendijk J E, de Visser M, Bolhuis P A

机构信息

Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.

出版信息

Hum Genet. 1997 Apr;99(4):501-5. doi: 10.1007/s004390050396.

DOI:10.1007/s004390050396

PMID:9099841

Abstract

Single-strand conformational polymorphisms (SSCP) of the connexin32 gene were analyzed in 121 patients possibly affected by Charcot-Marie-Tooth (CMT) disease. The 121 patients were selected from 443 possible CMT/HNPP (hereditary neuropathy with liability to pressure palsies) patients based on genetic linkage to Xq13.1, absence of the 17p12 duplication and deletion, and absence of point mutations in PMP22 and P0. We found five new mutations at nucleotides 105 (C-T), 316 (C-G), 321 (C-T), 328 (T-C), and 657 (G-C), and three mutations at nucleotide 126 (C-T), 249 (G-A), and 477 (G-A) previously described in other unrelated families. The nucleotide changes resulted in seven amino-acid substitutions and one premature stop codon.

摘要

在121例可能患有夏科-马里-图斯（CMT）病的患者中分析了连接蛋白32基因的单链构象多态性（SSCP）。这121例患者是从443例可能患有CMT/遗传性压力易感性神经病（HNPP）的患者中挑选出来的，挑选依据是与Xq13.1的基因连锁关系、不存在17p12重复和缺失以及不存在PMP22和P0中的点突变。我们发现了五个新的核苷酸突变，分别位于第105位（C-T）、316位（C-G）、321位（C-T）、328位（T-C）和657位（G-C），以及三个先前在其他不相关家族中描述过的核苷酸突变，分别位于第126位（C-T）、249位（G-A）和477位（G-A）。核苷酸变化导致了七个氨基酸替换和一个提前终止密码子。